{"id":"https://openalex.org/W4409155406","doi":"https://doi.org/10.1097/ms9.0000000000003261","title":"Xeroderma pigmentosa associated with spindle cell carcinoma of lung: a case report","display_name":"Xeroderma pigmentosa associated with spindle cell carcinoma of lung: a case report","publication_year":2025,"publication_date":"2025-04-04","ids":{"openalex":"https://openalex.org/W4409155406","doi":"https://doi.org/10.1097/ms9.0000000000003261","pmid":"https://pubmed.ncbi.nlm.nih.gov/40337377"},"language":"en","primary_location":{"id":"doi:10.1097/ms9.0000000000003261","doi":"https://doi.org/10.1097/ms9.0000000000003261","is_oa":true,"landing_page_url":"https://doi.org/10.1097/ms9.0000000000003261","pdf_url":null,"source":{"id":"https://openalex.org/S4210226177","display_name":"Annals of Medicine and Surgery","issn_l":"2049-0801","issn":["2049-0801"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Medicine &amp; Surgery","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1097/ms9.0000000000003261","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101688002","display_name":"Bibek Man Shrestha","orcid":"https://orcid.org/0009-0000-4260-7677","observed_orcids":["https://orcid.org/0009-0000-4260-7677"]},"institutions":[{"id":"https://openalex.org/I155028946","display_name":"Tribhuvan University","ror":"https://ror.org/02rg1r889","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946"]},{"id":"https://openalex.org/I4405258250","display_name":"Maharajgunj Medical Campus","ror":"https://ror.org/00bzk5h02","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946","https://openalex.org/I4405258250","https://openalex.org/I4405260107"]},{"id":"https://openalex.org/I4405260107","display_name":"Institute of Medicine","ror":"https://ror.org/038ymyw44","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946","https://openalex.org/I4405260107"]}],"countries":["NP"],"is_corresponding":true,"raw_author_name":"Bibek Shrestha","raw_affiliation_strings":["Maharajgunj Medical Campus, Tribhuvan University, Institute of Medicine, Kathmandu Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Maharajgunj Medical Campus, Tribhuvan University, Institute of Medicine, Kathmandu Nepal","institution_ids":["https://openalex.org/I155028946","https://openalex.org/I4405258250","https://openalex.org/I4405260107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091640096","display_name":"Grishma Kandel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I155028946","display_name":"Tribhuvan University","ror":"https://ror.org/02rg1r889","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946"]},{"id":"https://openalex.org/I4405258250","display_name":"Maharajgunj Medical Campus","ror":"https://ror.org/00bzk5h02","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946","https://openalex.org/I4405258250","https://openalex.org/I4405260107"]},{"id":"https://openalex.org/I4405260107","display_name":"Institute of Medicine","ror":"https://ror.org/038ymyw44","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946","https://openalex.org/I4405260107"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Grishma Kandel","raw_affiliation_strings":["Maharajgunj Medical Campus, Tribhuvan University, Institute of Medicine, Kathmandu Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Maharajgunj Medical Campus, Tribhuvan University, Institute of Medicine, Kathmandu Nepal","institution_ids":["https://openalex.org/I155028946","https://openalex.org/I4405258250","https://openalex.org/I4405260107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111341420","display_name":"Dhiraj Adhikari","orcid":"https://orcid.org/0009-0007-0656-333X","observed_orcids":["https://orcid.org/0009-0007-0656-333X"]},"institutions":[{"id":"https://openalex.org/I155028946","display_name":"Tribhuvan University","ror":"https://ror.org/02rg1r889","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946"]},{"id":"https://openalex.org/I4405258250","display_name":"Maharajgunj Medical Campus","ror":"https://ror.org/00bzk5h02","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946","https://openalex.org/I4405258250","https://openalex.org/I4405260107"]},{"id":"https://openalex.org/I4405260107","display_name":"Institute of Medicine","ror":"https://ror.org/038ymyw44","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946","https://openalex.org/I4405260107"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Dhiraj Adhikari","raw_affiliation_strings":["Maharajgunj Medical Campus, Tribhuvan University, Institute of Medicine, Kathmandu Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Maharajgunj Medical Campus, Tribhuvan University, Institute of Medicine, Kathmandu Nepal","institution_ids":["https://openalex.org/I155028946","https://openalex.org/I4405258250","https://openalex.org/I4405260107"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111349355","display_name":"Sudip Bastakoti","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210119140","display_name":"Tribhuvan University Teaching Hospital","ror":"https://ror.org/02me73n88","country_code":"NP","type":"healthcare","lineage":["https://openalex.org/I4210119140"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Sudip Bastakoti","raw_affiliation_strings":["Department of Internal Medicine, Tribhuvan University Teaching Hospital, Kathmandu Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Tribhuvan University Teaching Hospital, Kathmandu Nepal","institution_ids":["https://openalex.org/I4210119140"]}]},{"author_position":"last","author":{"id":null,"display_name":"Abhinash Mishra","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I155028946","display_name":"Tribhuvan University","ror":"https://ror.org/02rg1r889","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946"]},{"id":"https://openalex.org/I4405258250","display_name":"Maharajgunj Medical Campus","ror":"https://ror.org/00bzk5h02","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946","https://openalex.org/I4405258250","https://openalex.org/I4405260107"]},{"id":"https://openalex.org/I4405260107","display_name":"Institute of Medicine","ror":"https://ror.org/038ymyw44","country_code":"NP","type":"education","lineage":["https://openalex.org/I155028946","https://openalex.org/I4405260107"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Abhinash Mishra","raw_affiliation_strings":["Maharajgunj Medical Campus, Tribhuvan University, Institute of Medicine, Kathmandu Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Maharajgunj Medical Campus, Tribhuvan University, Institute of Medicine, Kathmandu Nepal","institution_ids":["https://openalex.org/I155028946","https://openalex.org/I4405258250","https://openalex.org/I4405260107"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5101688002"],"corresponding_institution_ids":["https://openalex.org/I155028946","https://openalex.org/I4405258250","https://openalex.org/I4405260107"],"apc_list":{"value":1850,"currency":"USD","value_usd":1850},"apc_paid":{"value":1850,"currency":"USD","value_usd":1850},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.03857965,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"87","issue":"5","first_page":"3037","last_page":"3042"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.24650000035762787,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10123","display_name":"DNA Repair Mechanisms","score":0.24650000035762787,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10202","display_name":"Lung Cancer Diagnosis and Treatment","score":0.21289999783039093,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12992","display_name":"Metastasis and carcinoma case studies","score":0.09229999780654907,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/xeroderma-pigmentosum","display_name":"xeroderma pigmentosum","score":0.9990000128746033},{"id":"https://openalex.org/keywords/sarcomatoid-carcinoma","display_name":"sarcomatoid carcinoma","score":0.9679999947547913},{"id":"https://openalex.org/keywords/non-small-cell-lung-cancer","display_name":"non-small cell lung cancer","score":0.9549999833106995},{"id":"https://openalex.org/keywords/tp53-mutation","display_name":"TP53 mutation","score":0.8519999980926514},{"id":"https://openalex.org/keywords/nucleotide-excision-repair-deficiency","display_name":"nucleotide excision repair deficiency","score":0.859000027179718},{"id":"https://openalex.org/keywords/uv-sensitivity","display_name":"UV sensitivity","score":0.6729999780654907},{"id":"https://openalex.org/keywords/focal-seizures","display_name":"focal seizures","score":0.7979999780654907},{"id":"https://openalex.org/keywords/cancer-surveillance","display_name":"cancer surveillance","score":0.628000020980835},{"id":"https://openalex.org/keywords/palliative-care","display_name":"palliative care","score":0.925000011920929}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9156515002250671},{"id":"https://openalex.org/C2777714996","wikidata":"https://www.wikidata.org/wiki/Q7886","display_name":"Lung","level":2,"score":0.46963927149772644},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.46283507347106934},{"id":"https://openalex.org/C3019992690","wikidata":"https://www.wikidata.org/wiki/Q92767510","display_name":"Basal cell","level":2,"score":0.414200097322464},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.410856693983078},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.15732350945472717}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1097/ms9.0000000000003261","doi":"https://doi.org/10.1097/ms9.0000000000003261","is_oa":true,"landing_page_url":"https://doi.org/10.1097/ms9.0000000000003261","pdf_url":null,"source":{"id":"https://openalex.org/S4210226177","display_name":"Annals of Medicine and Surgery","issn_l":"2049-0801","issn":["2049-0801"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Medicine &amp; Surgery","raw_type":"journal-article"},{"id":"pmid:40337377","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40337377","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of medicine and surgery (2012)","raw_type":"Case Reports"},{"id":"pmh:oai:europepmc.org:10868030","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12055150","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:12055150","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12055150","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Ann Med Surg (Lond)","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1097/ms9.0000000000003261","doi":"https://doi.org/10.1097/ms9.0000000000003261","is_oa":true,"landing_page_url":"https://doi.org/10.1097/ms9.0000000000003261","pdf_url":null,"source":{"id":"https://openalex.org/S4210226177","display_name":"Annals of Medicine and Surgery","issn_l":"2049-0801","issn":["2049-0801"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","poland-70","russia-white-list-2"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Medicine &amp; Surgery","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W1831956409","https://openalex.org/W1994194195","https://openalex.org/W2026275200","https://openalex.org/W2144988423","https://openalex.org/W2160148699","https://openalex.org/W2279274285","https://openalex.org/W2326655889","https://openalex.org/W2755865572","https://openalex.org/W2904176528","https://openalex.org/W2984890979","https://openalex.org/W2991648622","https://openalex.org/W3008981660","https://openalex.org/W3014922869","https://openalex.org/W3029910642","https://openalex.org/W3151093430","https://openalex.org/W3177090071","https://openalex.org/W4210392061","https://openalex.org/W4221094775","https://openalex.org/W4353061726","https://openalex.org/W4362521115","https://openalex.org/W4382181447","https://openalex.org/W4384131319","https://openalex.org/W4388870122","https://openalex.org/W6681611990"],"related_works":["https://openalex.org/W2899084033","https://openalex.org/W2748952813","https://openalex.org/W3031052312","https://openalex.org/W4389568370","https://openalex.org/W3032375762","https://openalex.org/W1995515455","https://openalex.org/W2080531066","https://openalex.org/W3108674512","https://openalex.org/W1506200166","https://openalex.org/W1489783725"],"abstract_inverted_index":{"Introduction":[0],"and":[1,28,39,87,98,104,118,130,149,214,224,244],"importance:":[2],"Xeroderma":[3],"pigmentosum":[4],"is":[5,51,146,165,198],"a":[6,29,71,78,124,147],"rare":[7,148,228],"autosomal":[8],"recessive":[9],"genetic":[10],"disorder":[11],"characterized":[12],"by":[13,180],"defective":[14,168],"nucleotide":[15],"excision":[16],"repair,":[17],"leading":[18],"to":[19,22,177],"extreme":[20],"sensitivity":[21],"ultraviolet":[23],"radiation,":[24],"skin":[25,55],"pigmentation":[26],"changes,":[27],"heightened":[30],"risk":[31],"of":[32,46,73,81,152,158,203,211,221],"malignancies.":[33,160],"Neurological":[34],"symptoms,":[35],"such":[36],"as":[37,167],"seizures":[38],"cognitive":[40],"decline,":[41],"are":[42,62],"observed":[43],"in":[44,91,108,172,193,230],"20%":[45],"cases.":[47],"While":[48],"xeroderma":[49,74,173,204],"pigmentosa":[50,75,174,205],"commonly":[52],"associated":[53,206],"with":[54,70,77,136,163,207],"cancers,":[56],"systemic":[57,191],"malignancies":[58,178,192,229],"like":[59],"lung":[60,128,154,213],"carcinoma":[61,135,145,210],"exceedingly":[63],"rare.":[64],"Case":[65],"presentation:":[66],"A":[67],"22-year-old":[68],"male":[69],"history":[72,80],"presented":[76],"six-month":[79],"non-productive":[82],"cough,":[83],"hemoptysis,":[84],"intermittent":[85],"fever,":[86],"episodic":[88],"jerky":[89],"movements":[90],"his":[92],"upper":[93],"limb.":[94],"Examination":[95],"revealed":[96,132],"hypo-":[97],"hyperpigmented":[99],"macules,":[100],"cachexia,":[101],"cervical":[102],"lymphadenopathy,":[103],"diminished":[105],"air":[106],"entry":[107],"the":[109,186,199,212,219],"left":[110,125],"lung.":[111],"Blood":[112],"tests":[113],"indicated":[114],"leukocytosis,":[115],"elevated":[116,235],"ESR,":[117],"abnormal":[119],"electrolyte":[120],"levels.":[121],"Imaging":[122],"confirmed":[123],"lower":[126],"lobe":[127],"mass,":[129],"biopsy":[131],"spindle":[133,208],"cell":[134,144,209],"p53":[137,181],"positivity":[138],"on":[139],"immunohistochemistry.":[140],"Clinical":[141],"discussion:":[142],"Spindle":[143],"aggressive":[150],"subtype":[151],"non-small-cell":[153],"cancer,":[155],"comprising":[156],"0.2-0.3%":[157],"pulmonary":[159],"Its":[161],"association":[162],"XP":[164,194,231],"notable,":[166],"DNA":[169],"repair":[170],"mechanisms":[171],"predispose":[175],"patients":[176],"driven":[179],"mutations.":[182],"This":[183,197],"case":[184,202],"emphasizes":[185],"need":[187],"for":[188,190,227,241],"vigilance":[189],"patients.":[195],"Conclusion:":[196],"first":[200],"reported":[201],"focal":[215],"seizures.":[216],"It":[217],"underscores":[218],"importance":[220],"early":[222],"recognition":[223],"comprehensive":[225],"surveillance":[226],"patients,":[232],"given":[233],"their":[234],"cancer":[236],"risk.":[237],"The":[238],"patient":[239],"opted":[240],"palliative":[242],"care":[243],"was":[245],"symptomatically":[246],"managed.":[247]},"counts_by_year":[],"updated_date":"2026-10-16T09:59:22.235173","created_date":"2025-10-10T00:00:00"}
